Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion> ?p ?o ?g. }
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- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion type Assertion NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_head.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion description "[Mutation profiling of positional-candidate genes detected a heterozygous, noncoding G-to-T transversion (c.-168G>T) located in the iron response element (IRE) of the gene coding for ferritin light chain (FTL) that cosegregated with cataract in the family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion evidence source_evidence_literature NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion SIO_000772 23592921 NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion wasDerivedFrom befree-20150227 NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.
- NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_assertion wasGeneratedBy ECO_0000203 NP413365.RAS5O49NRH2dtkrpI8IBNN6zen03JOs49yOyjus4s5iGM130_provenance.